NACC1 (nucleus accumbens associated 1) - Rat Genome Database
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Gene: NACC1 (nucleus accumbens associated 1) Homo sapiens
Analyze
Symbol: NACC1
Name: nucleus accumbens associated 1
RGD ID: 732621
HGNC Page HGNC
Description: Predicted to have DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and histone deacetylase binding activity. Involved in negative regulation of transcription, DNA-templated and positive regulation of cell population proliferation. Localizes to cell junction and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BEN domain containing 8; BEND8; BTB (POZ) domain containing 14B; BTB/POZ domain-containing protein 14B; BTBD14B; BTBD30; FLJ37383; NAC-1; NAC1; NECFM; nucleus accumbens associated 1, BEN and BTB (POZ) domain containing; nucleus accumbens-associated protein 1; transcriptional repressor NAC1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100862682  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1913,116,862 - 13,141,147 (+)EnsemblGRCh38hg38GRCh38
GRCh381913,116,848 - 13,141,147 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,229,078 - 13,251,961 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371913,228,813 - 13,251,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361913,090,109 - 13,112,959 (+)NCBINCBI36hg18NCBI36
Build 341913,090,108 - 13,112,958NCBI
Celera1913,119,516 - 13,142,359 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,818,385 - 12,824,342 (+)NCBIHuRef
CHM1_11913,230,097 - 13,252,914 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:11906783   PMID:14702039   PMID:15302935   PMID:15489334   PMID:16033423   PMID:17130457   PMID:17391728   PMID:17699672   PMID:17804717   PMID:18029348   PMID:18347169   PMID:18483383  
PMID:19121354   PMID:19305429   PMID:19407373   PMID:20372782   PMID:20869761   PMID:21240255   PMID:21301057   PMID:21562571   PMID:21743489   PMID:21873635   PMID:21889186   PMID:22024751  
PMID:22653145   PMID:22665267   PMID:22665369   PMID:22993327   PMID:23022214   PMID:23251661   PMID:23252869   PMID:23403292   PMID:24200849   PMID:24231739   PMID:24255178   PMID:25484205  
PMID:25609649   PMID:25852190   PMID:25891951   PMID:26172271   PMID:26186194   PMID:26553360   PMID:26673895   PMID:27424155   PMID:27432908   PMID:27634302   PMID:28132692   PMID:28319066  
PMID:28514442   PMID:28713930   PMID:28786561   PMID:29117863   PMID:29395067   PMID:29490077   PMID:29568061   PMID:29676528   PMID:30373858   PMID:30442370   PMID:31235549   PMID:31753913  
PMID:32091103   PMID:32296183   PMID:32416067   PMID:32572027   PMID:32694731  


Genomics

Comparative Map Data
NACC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1913,116,862 - 13,141,147 (+)EnsemblGRCh38hg38GRCh38
GRCh381913,116,848 - 13,141,147 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,229,078 - 13,251,961 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371913,228,813 - 13,251,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361913,090,109 - 13,112,959 (+)NCBINCBI36hg18NCBI36
Build 341913,090,108 - 13,112,958NCBI
Celera1913,119,516 - 13,142,359 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,818,385 - 12,824,342 (+)NCBIHuRef
CHM1_11913,230,097 - 13,252,914 (+)NCBICHM1_1
Nacc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,397,106 - 85,414,528 (-)NCBIGRCm39mm39
GRCm38884,670,477 - 84,687,862 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,670,479 - 84,687,902 (-)EnsemblGRCm38mm10GRCm38
MGSCv37887,194,378 - 87,211,761 (-)NCBIGRCm37mm9NCBIm37
MGSCv36887,560,584 - 87,577,940 (-)NCBImm8
Celera888,970,386 - 88,987,750 (-)NCBICelera
Cytogenetic Map8C3NCBI
cM Map841.02NCBI
Nacc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21923,468,688 - 23,486,528 (+)NCBI
Rnor_6.0 Ensembl1925,783,900 - 25,801,526 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01925,783,686 - 25,801,526 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01936,761,685 - 36,777,149 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41925,131,782 - 25,148,664 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11925,136,607 - 25,153,490 (+)NCBI
Celera1923,022,358 - 23,037,970 (+)NCBICelera
Cytogenetic Map19q11NCBI
Nacc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541532,136,439 - 32,152,059 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541532,135,633 - 32,152,059 (+)NCBIChiLan1.0ChiLan1.0
NACC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11913,412,462 - 13,439,679 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,412,462 - 13,439,679 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01912,679,837 - 12,704,470 (+)NCBIMhudiblu_PPA_v0panPan3
NACC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2049,083,132 - 49,099,884 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12049,080,490 - 49,099,623 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Nacc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366592,164,147 - 2,169,879 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NACC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl265,922,126 - 65,938,760 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1265,920,352 - 65,938,840 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,247,148 - 66,262,235 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NACC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,800,219 - 11,825,232 (+)NCBI
ChlSab1.1 Ensembl611,818,968 - 11,825,412 (+)Ensembl
Nacc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624901658,861 - 676,322 (+)NCBI

Position Markers
RH104306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,249,294 - 13,249,440UniSTSGRCh37
Build 361913,110,294 - 13,110,440RGDNCBI36
Celera1913,139,690 - 13,139,836RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,821,671 - 12,821,817UniSTS
GeneMap99-GB4 RH Map1972.87UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2585
Count of miRNA genes:920
Interacting mature miRNAs:1127
Transcripts:ENST00000292431, ENST00000585663, ENST00000586171
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2340 2218 1530 432 1656 280 3759 1590 3567 372 1357 1593 165 927 2380 4
Low 96 770 195 191 286 184 596 606 162 46 94 16 8 1 277 408 1 1
Below cutoff 1 6 1 4 1 6 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000292431   ⟹   ENSP00000292431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,118,264 - 13,141,147 (+)Ensembl
RefSeq Acc Id: ENST00000585663   ⟹   ENSP00000466017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,137,279 - 13,138,736 (+)Ensembl
RefSeq Acc Id: ENST00000586171   ⟹   ENSP00000467120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,116,862 - 13,135,704 (+)Ensembl
RefSeq Acc Id: NM_052876   ⟹   NP_443108
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,118,264 - 13,141,147 (+)NCBI
GRCh371913,228,813 - 13,251,961 (+)NCBI
Build 361913,090,109 - 13,112,959 (+)NCBI Archive
HuRef1912,818,385 - 12,824,342 (+)NCBI
CHM1_11913,230,097 - 13,252,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259721   ⟹   XP_005259778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,116,848 - 13,141,147 (+)NCBI
GRCh371913,228,813 - 13,251,961 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_443108   ⟸   NM_052876
- UniProtKB: Q96RE7 (UniProtKB/Swiss-Prot),   A0A024R7E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259778   ⟸   XM_005259721
- Peptide Label: isoform X1
- UniProtKB: Q96RE7 (UniProtKB/Swiss-Prot),   A0A024R7E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000292431   ⟸   ENST00000292431
RefSeq Acc Id: ENSP00000466017   ⟸   ENST00000585663
RefSeq Acc Id: ENSP00000467120   ⟸   ENST00000586171
Protein Domains
BEN   BTB

Promoters
RGD ID:6795830
Promoter ID:HG_KWN:29054
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_052876
Position:
Human AssemblyChrPosition (strand)Source
Build 361913,089,819 - 13,090,319 (+)MPROMDB
RGD ID:7238777
Promoter ID:EPDNEW_H25135
Type:initiation region
Name:NACC1_2
Description:nucleus accumbens associated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25137  EPDNEW_H25136  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,116,852 - 13,116,912EPDNEW
RGD ID:7238791
Promoter ID:EPDNEW_H25136
Type:multiple initiation site
Name:NACC1_3
Description:nucleus accumbens associated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25135  EPDNEW_H25137  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,117,273 - 13,117,333EPDNEW
RGD ID:7238781
Promoter ID:EPDNEW_H25137
Type:initiation region
Name:NACC1_1
Description:nucleus accumbens associated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25135  EPDNEW_H25136  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,118,287 - 13,118,347EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_052876.4(NACC1):c.133C>T (p.Arg45Trp) single nucleotide variant not provided [RCV000519705] Chr19:13135340 [GRCh38]
Chr19:13246154 [GRCh37]
Chr19:19p13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 copy number gain See cases [RCV000052911] Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1 copy number loss See cases [RCV000135352] Chr19:13034666..13283686 [GRCh38]
Chr19:13145480..13394500 [GRCh37]
Chr19:13006480..13255500 [NCBI36]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3 copy number gain See cases [RCV000136559] Chr19:12978943..13236134 [GRCh38]
Chr19:13089757..13346948 [GRCh37]
Chr19:12950757..13207948 [NCBI36]
Chr19:19p13.13
likely pathogenic|uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1 copy number loss See cases [RCV000138197] Chr19:12974394..13408586 [GRCh38]
Chr19:13085208..13519400 [GRCh37]
Chr19:12946208..13380400 [NCBI36]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NC_000019.9:g.(?_13106632)_(13428155_?)del deletion Marshall-Smith syndrome [RCV000543828] Chr19:13106632..13428155 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3 copy number gain See cases [RCV000449427] Chr19:13180583..13319148 [GRCh37]
Chr19:19p13.2
likely pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) single nucleotide variant Inborn genetic diseases [RCV000624692]|Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination [RCV000477683]|not provided [RCV000522576] Chr19:13136099 [GRCh38]
Chr19:13246913 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
NM_052876.4(NACC1):c.365A>G (p.Lys122Arg) single nucleotide variant Inborn genetic diseases [RCV000623311] Chr19:13135572 [GRCh38]
Chr19:13246386 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_052876.4(NACC1):c.1083C>T (p.Asp361=) single nucleotide variant not provided [RCV000961086] Chr19:13136368 [GRCh38]
Chr19:13247182 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.540C>T (p.Pro180=) single nucleotide variant not provided [RCV000904296] Chr19:13135747 [GRCh38]
Chr19:13246561 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.1383C>T (p.Ala461=) single nucleotide variant not provided [RCV000936761] Chr19:13138205 [GRCh38]
Chr19:13249019 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.1386C>T (p.Asp462=) single nucleotide variant not provided [RCV000879469] Chr19:13138208 [GRCh38]
Chr19:13249022 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.282G>A (p.Val94=) single nucleotide variant not provided [RCV000899657] Chr19:13135489 [GRCh38]
Chr19:13246303 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.702C>T (p.Ala234=) single nucleotide variant not provided [RCV000901332] Chr19:13135909 [GRCh38]
Chr19:13246723 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.1540A>G (p.Ser514Gly) single nucleotide variant not provided [RCV000906548] Chr19:13138362 [GRCh38]
Chr19:13249176 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.948C>T (p.Ala316=) single nucleotide variant not provided [RCV000915788] Chr19:13136233 [GRCh38]
Chr19:13247047 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.309G>A (p.Thr103=) single nucleotide variant not provided [RCV000901587] Chr19:13135516 [GRCh38]
Chr19:13246330 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.1227-4C>T single nucleotide variant not provided [RCV000959790] Chr19:13137474 [GRCh38]
Chr19:13248288 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.207G>A (p.Leu69=) single nucleotide variant not provided [RCV000885833] Chr19:13135414 [GRCh38]
Chr19:13246228 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.740_742CAG[2] (p.Ala249del) microsatellite not provided [RCV000996768] Chr19:13135946..13135948 [GRCh38]
Chr19:13246760..13246762 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_052876.4(NACC1):c.623C>T (p.Thr208Met) single nucleotide variant Microcephaly [RCV001252796]|not provided [RCV000833626] Chr19:13135830 [GRCh38]
Chr19:13246644 [GRCh37]
Chr19:19p13.13
likely benign|uncertain significance
NM_052876.4(NACC1):c.946+10C>T single nucleotide variant not provided [RCV000897883] Chr19:13136163 [GRCh38]
Chr19:13246977 [GRCh37]
Chr19:19p13.13
benign
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2
pathogenic
NM_052876.4(NACC1):c.1462G>A (p.Ala488Thr) single nucleotide variant not provided [RCV000959524] Chr19:13138284 [GRCh38]
Chr19:13249098 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.1038A>C (p.Glu346Asp) single nucleotide variant Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination [RCV001198422] Chr19:13136323 [GRCh38]
Chr19:13247137 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_052876.4(NACC1):c.1325-4A>C single nucleotide variant Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination [RCV001198992] Chr19:13138143 [GRCh38]
Chr19:13248957 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_052876.4(NACC1):c.588C>T (p.Gly196=) single nucleotide variant not provided [RCV000910011] Chr19:13135795 [GRCh38]
Chr19:13246609 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.1086G>A (p.Glu362=) single nucleotide variant not provided [RCV000919797] Chr19:13136371 [GRCh38]
Chr19:13247185 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.849C>T (p.Asp283=) single nucleotide variant not provided [RCV000930105] Chr19:13136056 [GRCh38]
Chr19:13246870 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.282G>T (p.Val94=) single nucleotide variant not provided [RCV000950273] Chr19:13135489 [GRCh38]
Chr19:13246303 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.710C>T (p.Ala237Val) single nucleotide variant not provided [RCV000886242] Chr19:13135917 [GRCh38]
Chr19:13246731 [GRCh37]
Chr19:19p13.13
benign
NM_052876.4(NACC1):c.30G>A (p.Pro10=) single nucleotide variant not provided [RCV000930047] Chr19:13135237 [GRCh38]
Chr19:13246051 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.351C>T (p.Thr117=) single nucleotide variant not provided [RCV000916794] Chr19:13135558 [GRCh38]
Chr19:13246372 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.873G>C (p.Glu291Asp) single nucleotide variant not provided [RCV000935808] Chr19:13136080 [GRCh38]
Chr19:13246894 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.546C>T (p.Ala182=) single nucleotide variant not provided [RCV000935036] Chr19:13135753 [GRCh38]
Chr19:13246567 [GRCh37]
Chr19:19p13.13
likely benign
NM_052876.4(NACC1):c.1325-14A>C single nucleotide variant Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination [RCV001197278] Chr19:13138133 [GRCh38]
Chr19:13248947 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_052876.4(NACC1):c.1537G>A (p.Ala513Thr) single nucleotide variant Intellectual disability [RCV001256075] Chr19:13138359 [GRCh38]
Chr19:13249173 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_052876.4(NACC1):c.1199G>A (p.Arg400Gln) single nucleotide variant Inborn genetic diseases [RCV001267566] Chr19:13137349 [GRCh38]
Chr19:13248163 [GRCh37]
Chr19:19p13.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20967 AgrOrtholog
COSMIC NACC1 COSMIC
Ensembl Genes ENSG00000160877 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000292431 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466017 UniProtKB/TrEMBL
  ENSP00000467120 UniProtKB/TrEMBL
Ensembl Transcript ENST00000292431 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585663 UniProtKB/TrEMBL
  ENST00000586171 UniProtKB/TrEMBL
GTEx ENSG00000160877 GTEx
HGNC ID HGNC:20967 ENTREZGENE
Human Proteome Map NACC1 Human Proteome Map
InterPro BEN_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:112939 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 112939 ENTREZGENE
OMIM 610672 OMIM
  617393 OMIM
Pfam BEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164723404 PharmGKB
PROSITE BEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R7E0 ENTREZGENE, UniProtKB/TrEMBL
  K7ELC5_HUMAN UniProtKB/TrEMBL
  K7ENW4_HUMAN UniProtKB/TrEMBL
  NACC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 NACC1  nucleus accumbens associated 1    nucleus accumbens associated 1, BEN and BTB (POZ) domain containing  Symbol and/or name change 5135510 APPROVED